ClinVar Miner

List of variants reported as uncertain significance for congenital merosin-deficient muscular dystrophy 1A

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00173
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=) rs899353 0.00120
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00091
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg) rs138162760 0.00071
NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn) rs141340479 0.00067
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00066
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg) rs147185142 0.00053
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605 0.00039
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr) rs146490004 0.00028
NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn) rs749423866 0.00026
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val) rs146854942 0.00026
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg) rs139739075 0.00024
NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His) rs144830879 0.00024
NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu) rs141235562 0.00022
NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys) rs374888837 0.00021
NM_000426.4(LAMA2):c.8920A>T (p.Thr2974Ser) rs140202046 0.00021
NM_000426.4(LAMA2):c.7415G>T (p.Gly2472Val) rs200921233 0.00019
NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile) rs371403343 0.00017
NM_000426.4(LAMA2):c.8989-12C>G rs144860334 0.00017
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys) rs145885540 0.00016
NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met) rs370971334 0.00014
NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser) rs143664472 0.00014
NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr) rs780695627 0.00014
NM_000426.4(LAMA2):c.9188C>A (p.Pro3063His) rs151285465 0.00014
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp) rs139824017 0.00012
NM_000426.4(LAMA2):c.725G>A (p.Arg242His) rs373570586 0.00012
NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys) rs140604077 0.00011
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser) rs143638361 0.00011
NM_000426.4(LAMA2):c.1391C>T (p.Pro464Leu) rs150394215 0.00010
NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala) rs139843107 0.00010
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu) rs151049890 0.00010
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys) rs145465528 0.00009
NM_000426.4(LAMA2):c.4075A>G (p.Met1359Val) rs749372185 0.00008
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn) rs372592018 0.00008
NM_000426.4(LAMA2):c.9328G>A (p.Glu3110Lys) rs140829166 0.00008
NM_000426.4(LAMA2):c.2054T>G (p.Leu685Arg) rs746641607 0.00007
NM_000426.4(LAMA2):c.5179G>C (p.Glu1727Gln) rs374201203 0.00007
NM_000426.4(LAMA2):c.7486C>T (p.Leu2496Phe) rs970365005 0.00007
NM_000426.4(LAMA2):c.3662T>G (p.Met1221Arg) rs140895872 0.00006
NM_000426.4(LAMA2):c.3862G>A (p.Val1288Ile) rs758134778 0.00006
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr) rs368349321 0.00006
NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile) rs201587923 0.00006
NM_000426.4(LAMA2):c.8326A>T (p.Ile2776Phe) rs569286697 0.00006
NM_000426.4(LAMA2):c.8524A>G (p.Ile2842Val) rs140178576 0.00006
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg) rs370843758 0.00006
NM_000426.4(LAMA2):c.9145C>G (p.Gln3049Glu) rs146525742 0.00006
NM_000426.4(LAMA2):c.1586G>A (p.Ser529Asn) rs370691060 0.00005
NM_000426.4(LAMA2):c.3403A>C (p.Thr1135Pro) rs760558443 0.00005
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg) rs372956200 0.00005
NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg) rs150361703 0.00004
NM_000426.4(LAMA2):c.4118C>T (p.Pro1373Leu) rs754163400 0.00004
NM_000426.4(LAMA2):c.5050G>A (p.Glu1684Lys) rs201632009 0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu) rs398123388 0.00004
NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr) rs794727815 0.00004
NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln) rs759973830 0.00003
NM_000426.4(LAMA2):c.2609A>G (p.Asn870Ser) rs1322715021 0.00003
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn) rs375640462 0.00003
NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln) rs373614496 0.00003
NM_000426.4(LAMA2):c.712G>A (p.Ala238Thr) rs779975082 0.00003
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys) rs143626559 0.00002
NM_000426.4(LAMA2):c.4188G>A (p.Pro1396=) rs369076029 0.00002
NM_000426.4(LAMA2):c.5593C>T (p.Pro1865Ser) rs563638833 0.00002
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile) rs199814707 0.00002
NM_000426.4(LAMA2):c.7630A>G (p.Ile2544Val) rs147430700 0.00002
NM_000426.4(LAMA2):c.848T>C (p.Val283Ala) rs376917587 0.00002
NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val) rs75048006 0.00002
NM_000426.4(LAMA2):c.1364G>A (p.Arg455Gln) rs201177178 0.00001
NM_000426.4(LAMA2):c.1782+2dup rs1272011145 0.00001
NM_000426.4(LAMA2):c.2089A>G (p.Ile697Val) rs778059153 0.00001
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg) rs920771326 0.00001
NM_000426.4(LAMA2):c.2375T>C (p.Phe792Ser) rs398123370 0.00001
NM_000426.4(LAMA2):c.2451-6A>G rs896691971 0.00001
NM_000426.4(LAMA2):c.2749+2dup rs759144210 0.00001
NM_000426.4(LAMA2):c.307A>G (p.Ile103Val) rs369978622 0.00001
NM_000426.4(LAMA2):c.3110T>C (p.Ile1037Thr) rs797045679 0.00001
NM_000426.4(LAMA2):c.3508G>A (p.Gly1170Ser) rs747246881 0.00001
NM_000426.4(LAMA2):c.3556-13T>A rs775278003 0.00001
NM_000426.4(LAMA2):c.3803C>T (p.Ser1268Phe) rs776042035 0.00001
NM_000426.4(LAMA2):c.4107_4109del (p.Met1370del) rs1446213044 0.00001
NM_000426.4(LAMA2):c.443G>A (p.Arg148Gln) rs148103319 0.00001
NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met) rs778106503 0.00001
NM_000426.4(LAMA2):c.4699G>A (p.Glu1567Lys) rs371388948 0.00001
NM_000426.4(LAMA2):c.5072-3C>A rs759155854 0.00001
NM_000426.4(LAMA2):c.5285G>A (p.Arg1762Gln) rs138296015 0.00001
NM_000426.4(LAMA2):c.5938G>A (p.Glu1980Lys) rs769574222 0.00001
NM_000426.4(LAMA2):c.6520G>A (p.Val2174Ile) rs566853691 0.00001
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His) rs779326725 0.00001
NM_000426.4(LAMA2):c.6624G>C (p.Trp2208Cys) rs1294289973 0.00001
NM_000426.4(LAMA2):c.716G>A (p.Arg239His) rs776777494 0.00001
NM_000426.4(LAMA2):c.7369A>C (p.Asn2457His) rs797045680 0.00001
NM_000426.4(LAMA2):c.7526T>A (p.Leu2509His) rs578183193 0.00001
NM_000426.4(LAMA2):c.7553C>A (p.Thr2518Asn) rs1313279253 0.00001
NM_000426.4(LAMA2):c.7898+12A>G rs572960610 0.00001
NM_000426.4(LAMA2):c.8398G>A (p.Gly2800Ser) rs758491978 0.00001
NM_000426.4(LAMA2):c.9217C>T (p.Leu3073Phe) rs1315125567 0.00001
NM_000426.4(LAMA2):c.113-639del rs1787824675
NM_000426.4(LAMA2):c.1206G>C (p.Gly402=) rs1167723109
NM_000426.4(LAMA2):c.1358G>C (p.Cys453Ser) rs1554234086
NM_000426.4(LAMA2):c.1415_1429del (p.Ser472_Ser476del) rs1554234118
NM_000426.4(LAMA2):c.1454C>T (p.Pro485Leu) rs146522136
NM_000426.4(LAMA2):c.155T>G (p.Ile52Ser) rs1380745222
NM_000426.4(LAMA2):c.1669CAG[1] (p.Gln558del) rs775570308
NM_000426.4(LAMA2):c.172T>C (p.Cys58Arg) rs1731993495
NM_000426.4(LAMA2):c.1755C>T (p.Ser585=) rs1012171328
NM_000426.4(LAMA2):c.176G>A (p.Gly59Glu) rs748303070
NM_000426.4(LAMA2):c.1793_1795del (p.Val598del) rs1165542235
NM_000426.4(LAMA2):c.1795GGA[1] (p.Gly600del) rs753417521
NM_000426.4(LAMA2):c.2069A>G (p.Tyr690Cys) rs2114287747
NM_000426.4(LAMA2):c.21CCT[4] (p.Leu13dup) rs1347823295
NM_000426.4(LAMA2):c.2450+5_2450+8del rs1554260313
NM_000426.4(LAMA2):c.2833G>A (p.Gly945Ser) rs372574661
NM_000426.4(LAMA2):c.30_32del (p.Leu13del) rs1278217420
NM_000426.4(LAMA2):c.4019_4024dup (p.Ile1341_Lys1342insIleIle) rs1554270059
NM_000426.4(LAMA2):c.4232G>A (p.Gly1411Glu) rs727502850
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe) rs143680577
NM_000426.4(LAMA2):c.4468GAC[1] (p.Asp1491del) rs1554277753
NM_000426.4(LAMA2):c.4477C>T (p.Arg1493Cys) rs751053800
NM_000426.4(LAMA2):c.4517G>C (p.Cys1506Ser) rs1409043489
NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys) rs770084568
NM_000426.4(LAMA2):c.4660_4668del (p.Gly1554_Lys1556del) rs1554278670
NM_000426.4(LAMA2):c.4717+5G>A rs776050258
NM_000426.4(LAMA2):c.4743TCT[1] (p.Leu1583del) rs1554281282
NM_000426.4(LAMA2):c.476ATG[1] (p.Asp160del) rs1192484658
NM_000426.4(LAMA2):c.4874C>T (p.Pro1625Leu)
NM_000426.4(LAMA2):c.4945G>C (p.Glu1649Gln) rs143215851
NM_000426.4(LAMA2):c.5169GAT[1] (p.Met1724del) rs1554286976
NM_000426.4(LAMA2):c.5181A>C (p.Glu1727Asp) rs1779325827
NM_000426.4(LAMA2):c.5235-18G>A rs188365084
NM_000426.4(LAMA2):c.5443G>C (p.Glu1815Gln) rs1554287445
NM_000426.4(LAMA2):c.5449AAG[1] (p.Lys1818del) rs1225610123
NM_000426.4(LAMA2):c.5598G>T (p.Met1866Ile) rs1554289926
NM_000426.4(LAMA2):c.5665_5667del (p.Lys1889del) rs767066183
NM_000426.4(LAMA2):c.5954_5962dup (p.Ala1985_Asp1987dup) rs1554295259
NM_000426.4(LAMA2):c.595T>A (p.Cys199Ser) rs886043693
NM_000426.4(LAMA2):c.611C>A (p.Ser204Tyr) rs1204310516
NM_000426.4(LAMA2):c.6195GAA[2] (p.Lys2067del) rs758495000
NM_000426.4(LAMA2):c.6260C>A (p.Ser2087Tyr) rs1299914386
NM_000426.4(LAMA2):c.640-6127A>G
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del) rs1363017615
NM_000426.4(LAMA2):c.6752C>A (p.Pro2251His) rs546395293
NM_000426.4(LAMA2):c.6992+5G>A rs1221715098
NM_000426.4(LAMA2):c.7286_7288del (p.Arg2429del) rs1350705904
NM_000426.4(LAMA2):c.7390_7391delinsTT (p.Ala2464Leu) rs1554303509
NM_000426.4(LAMA2):c.7452-16T>G
NM_000426.4(LAMA2):c.7700G>C (p.Ser2567Thr) rs1554305929
NM_000426.4(LAMA2):c.77AGC[4] (p.Gln28dup) rs1554312698
NM_000426.4(LAMA2):c.77AGC[5] (p.Gln27_Gln28dup) rs1554312698
NM_000426.4(LAMA2):c.7933_7941del (p.Tyr2645_Gln2647del) rs762065775
NM_000426.4(LAMA2):c.819+2dup rs765817742
NM_000426.4(LAMA2):c.8484C>G (p.Asp2828Glu) rs1785788819
NM_000426.4(LAMA2):c.8591A>T (p.Asp2864Val) rs778258870
NM_000426.4(LAMA2):c.8654T>C (p.Leu2885Pro) rs1554316199
NM_000426.4(LAMA2):c.8710_8712dup (p.Tyr2904dup) rs1554317110
NM_000426.4(LAMA2):c.8716_8717insCCA (p.Ser2905_Ile2906insThr) rs1554317120
NM_000426.4(LAMA2):c.872G>C (p.Gly291Ala) rs1554226736
NM_000426.4(LAMA2):c.8768AAC[1] (p.Gln2924del) rs1554317173
NM_000426.4(LAMA2):c.8876G>C (p.Gly2959Ala) rs1393350402
NM_000426.4(LAMA2):c.8992_8994dup (p.Met2998dup) rs1437850233
NM_000426.4(LAMA2):c.9128G>A (p.Gly3043Glu) rs762958440
NM_000426.4(LAMA2):c.917G>A (p.Arg306His) rs1023922833
NM_000426.4(LAMA2):c.9223C>T (p.Gln3075Ter) rs771012835
NM_000426.4(LAMA2):c.9266_9283dup (p.Arg3089_Thr3094dup) rs1554321180

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